Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02072:C1qtnf6'

185873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1qtnf6

Ensembl Gene

ENSMUSG00000022440

Gene Name

C1q and tumor necrosis factor related protein 6

Synonyms

CTRP6, 2810036M19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02072

Quality Score

Status

Chromosome

Chromosomal Location

78407546-78415616 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 78411551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 42 (K42*)

Ref Sequence

ENSEMBL: ENSMUSP00000155221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023075] [ENSMUST00000229185] [ENSMUST00000230943]

AlphaFold

Q6IR41

Predicted Effect

probably null
Transcript: ENSMUST00000023075
AA Change: K42*

SMART Domains

Protein: ENSMUSP00000023075
Gene: ENSMUSG00000022440
AA Change: K42*

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC
C1Q	123	262	1.01e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147093

Predicted Effect

probably null
Transcript: ENSMUST00000229185
AA Change: K42*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230340

Predicted Effect

probably benign
Transcript: ENSMUST00000230943

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,371,096 (GRCm39)	S2251P	probably benign	Het
Ddx20	A	T	3: 105,587,943 (GRCm39)	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,644,986 (GRCm39)	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,926,788 (GRCm39)	N179K	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fancg	A	C	4: 43,007,062 (GRCm39)	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,721,031 (GRCm39)	I110V	probably damaging	Het
G6pd2	A	T	5: 61,966,753 (GRCm39)	D176V	probably damaging	Het
Gm5114	A	G	7: 39,060,826 (GRCm39)	S8P	probably benign	Het
Hoxa1	T	A	6: 52,133,878 (GRCm39)	M283L	probably damaging	Het
Hspbp1	A	T	7: 4,680,720 (GRCm39)	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,231,808 (GRCm39)	D319E	probably benign	Het
Kdm6a	A	G	X: 18,120,528 (GRCm39)	T737A	probably benign	Het
Kmt2c	A	T	5: 25,610,430 (GRCm39)	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,359,107 (GRCm39)	Y274*	probably null	Het
Lratd2	A	G	15: 60,695,302 (GRCm39)	L148P	probably damaging	Het
Mamdc4	A	G	2: 25,458,351 (GRCm39)	L353P	probably damaging	Het
Mid2	T	A	X: 139,637,201 (GRCm39)	H258Q	probably damaging	Het
Msh3	A	C	13: 92,436,803 (GRCm39)	N502K	probably damaging	Het
Nalcn	T	C	14: 123,560,770 (GRCm39)	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Notch3	G	A	17: 32,366,048 (GRCm39)	Q1018*	probably null	Het
Oas1e	A	G	5: 120,929,846 (GRCm39)		probably null	Het
Or4f14d	A	T	2: 111,960,426 (GRCm39)	H243Q	probably damaging	Het
Or7g34	A	G	9: 19,478,245 (GRCm39)	I145T	probably benign	Het
Plekha4	T	A	7: 45,187,722 (GRCm39)	F265I	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc9a3	T	C	13: 74,313,978 (GRCm39)	I762T	probably benign	Het
Spag1	C	A	15: 36,190,658 (GRCm39)	P158Q	probably damaging	Het
Spout1	G	A	2: 30,067,938 (GRCm39)	Q26*	probably null	Het
Sulf1	T	C	1: 12,918,432 (GRCm39)	Y50H	probably damaging	Het
Sytl5	C	T	X: 9,829,825 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,964,637 (GRCm39)	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,265,148 (GRCm39)	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,244,860 (GRCm39)	C183F	probably damaging	Het
Ubqln3	A	T	7: 103,790,506 (GRCm39)	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,848,368 (GRCm39)	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,009,144 (GRCm39)	V70A	probably benign	Het

Other mutations in C1qtnf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:C1qtnf6	APN	15	78,409,094 (GRCm39)	missense	probably damaging	1.00
IGL01534:C1qtnf6	APN	15	78,409,416 (GRCm39)	missense	probably benign	0.44
Santa	UTSW	15	78,409,092 (GRCm39)	splice site	probably null
R1524:C1qtnf6	UTSW	15	78,409,092 (GRCm39)	splice site	probably null
R1720:C1qtnf6	UTSW	15	78,411,640 (GRCm39)	missense	probably damaging	0.99
R2299:C1qtnf6	UTSW	15	78,409,542 (GRCm39)	missense	probably benign	0.00
R4271:C1qtnf6	UTSW	15	78,409,466 (GRCm39)	missense	probably benign	0.01
R5731:C1qtnf6	UTSW	15	78,411,514 (GRCm39)	missense	probably benign	0.00
R6118:C1qtnf6	UTSW	15	78,409,595 (GRCm39)	missense	probably damaging	0.99
R7140:C1qtnf6	UTSW	15	78,409,283 (GRCm39)	missense	probably benign	0.00
R7218:C1qtnf6	UTSW	15	78,411,574 (GRCm39)	missense	probably benign	0.00
R7317:C1qtnf6	UTSW	15	78,409,206 (GRCm39)	missense	probably damaging	1.00
R7438:C1qtnf6	UTSW	15	78,409,574 (GRCm39)	missense	probably benign
R7461:C1qtnf6	UTSW	15	78,411,549 (GRCm39)	missense	probably benign	0.00
R8122:C1qtnf6	UTSW	15	78,411,446 (GRCm39)	missense	probably benign	0.05
R8833:C1qtnf6	UTSW	15	78,409,574 (GRCm39)	missense	probably benign
R9084:C1qtnf6	UTSW	15	78,409,283 (GRCm39)	missense	probably damaging	0.99
R9104:C1qtnf6	UTSW	15	78,409,109 (GRCm39)	missense	probably benign	0.32
R9391:C1qtnf6	UTSW	15	78,415,516 (GRCm39)	missense	unknown
R9444:C1qtnf6	UTSW	15	78,411,544 (GRCm39)	missense	probably damaging	1.00
R9705:C1qtnf6	UTSW	15	78,411,493 (GRCm39)	missense	probably benign	0.00
X0022:C1qtnf6	UTSW	15	78,409,235 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07